Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs119103212 | 0.925 | 0.120 | 3 | 183045522 | missense variant | A/C | snv | 1.6E-05 | 5.6E-05 | 2 | |
rs1057520695 | 1.000 | 0.120 | 3 | 183092514 | missense variant | G/C | snv | 1 | |||
rs119103213 | 1.000 | 0.120 | 3 | 183041679 | missense variant | T/G | snv | 1.3E-04 | 7.7E-05 | 1 | |
rs119103214 | 1.000 | 0.120 | 3 | 183037218 | missense variant | C/G | snv | 1 | |||
rs119103215 | 1.000 | 0.120 | 3 | 183039093 | missense variant | A/G | snv | 1 | |||
rs119103216 | 1.000 | 0.120 | 3 | 183034068 | missense variant | G/A | snv | 1 | |||
rs119103218 | 1.000 | 0.120 | 3 | 183037432 | missense variant | A/C | snv | 1 | |||
rs1229069160 | 1.000 | 0.120 | 3 | 183072457 | missense variant | C/T | snv | 7.0E-06 | 1 | ||
rs1311374961 | 1.000 | 0.120 | 3 | 183092510 | frameshift variant | CT/- | delins | 4.0E-06 | 1.4E-05 | 1 | |
rs1326114075 | 1.000 | 0.120 | 3 | 183057318 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
rs1333357031 | 1.000 | 0.120 | 3 | 183041687 | missense variant | C/T | snv | 1.4E-05 | 1 | ||
rs1394547323 | 1.000 | 0.120 | 3 | 183033992 | frameshift variant | -/T | delins | 1.4E-05 | 1 | ||
rs1484347924 | 1.000 | 0.120 | 3 | 183041609 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs150862707 | 1.000 | 0.120 | 3 | 183052169 | stop gained | A/G;T | snv | 4.1E-04; 1.2E-05 | 1 | ||
rs1553850609 | 1.000 | 0.120 | 3 | 183022454 | frameshift variant | TTCGCTTTACTAGC/- | delins | 1 | |||
rs1553856095 | 1.000 | 0.120 | 3 | 183045508 | frameshift variant | AT/- | delins | 1 | |||
rs1560224024 | 1.000 | 0.120 | 3 | 183041571 | frameshift variant | GTACTCC/- | delins | 1 | |||
rs1560256569 | 1.000 | 0.120 | 3 | 183071018 | stop gained | TCTC/GCTATGCTAT | delins | 1 | |||
rs185741664 | 1.000 | 0.120 | 3 | 183057343 | stop gained | G/A | snv | 4.5E-05 | 2.1E-05 | 1 | |
rs186209189 | 1.000 | 0.120 | 3 | 183071223 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 1 | ||
rs199517715 | 1.000 | 0.120 | 3 | 183092545 | missense variant | C/T | snv | 4.0E-05 | 3.5E-05 | 1 | |
rs199914879 | 1.000 | 0.120 | 3 | 183071208 | splice donor variant | A/T | snv | 8.0E-06 | 1.4E-05 | 1 | |
rs201041864 | 1.000 | 0.120 | 3 | 183057312 | missense variant | G/A | snv | 1.4E-04 | 1.0E-04 | 1 | |
rs201386261 | 1.000 | 0.120 | 3 | 183041738 | missense variant | C/T | snv | 2.4E-05 | 1 | ||
rs202197951 | 1.000 | 0.120 | 3 | 183072469 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 1 |